E27E (p.Glu27Glu) variant of ATP1A2 (P50993)
E27E (p.Glu27Glu) in ATP1A2 (P50993) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
E27E (p.Glu27Glu) variant details
- p.Glu27Glu
- gnomAD 1-160120974-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.238
- CADD 8.96
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available